TEKT3

Cilia effects upon perturbation of TEKT3

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (5 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=3.35) PMID:20393562

Ciliopathy associations

• Male Infertility
• Nonsyndromic Tetralogy of Fallot

Subcellular localization

flagella, nucleus

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• T cell biology
• Reproduction & sperm
• Cell migration & adhesion

Function

Tektins are the accessory structures of the flagellum (16452089). We first examined the subcellular localization of these ciliary genes in both mouse embryonic fibroblasts (MEFs) and E10.5 mouse OFTs. Immunofluorescence staining analysis revealed that Mlf1 and Pkhd1l1 colocalized with acetylated α-tubulin and specifically accumulated in cilia axonemes, Sptbn5 colocalized with both acetylated α-tubulin and γ-tubulin along the entire cilia, Ppef2 and Tekt3 were localized to basal bodies of cilia, and Agbl2 was located at the base of cilia and overlapped with Nek2, a marker of centriole (Fig. 5A and fig. S16). However, because of the polygenic genetic architecture and low penetrance of nonsyndromic TOF, it was impossible to construct mouse models for each candidate ciliary gene to verify its pathogenic role in TOF. We therefore selected six previously unidentified genes (namely AGBL2, MLF1, PKHD1L1, PPEF2, SPTBN5, and TEKT3) with recurrent mutations for mouse models construction and phenotype validation, both to illustrate the reliability of our screening strategy and to provide in vivo evidence supporting the contribution of ciliary gene variants to TOF pathogenesis. (41071877)

Model organism evidence